rs13154178
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000668084.2(ENSG00000286271):n.133+14080G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.306 in 152,012 control chromosomes in the GnomAD database, including 7,658 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000668084.2 | n.133+14080G>A | intron_variant, non_coding_transcript_variant | |||||||
SELENOP | ENST00000514218.5 | c.-13-19633C>T | intron_variant | 5 | |||||
ENST00000651306.1 | n.377+10648G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653383.1 | n.273+14080G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.305 AC: 46381AN: 151892Hom.: 7630 Cov.: 32
GnomAD4 genome AF: 0.306 AC: 46452AN: 152012Hom.: 7658 Cov.: 32 AF XY: 0.300 AC XY: 22322AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at